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Causative variant profile of collagen VI-related dystrophy in Japan

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.1-284, Article 284

2021

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Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

Brain (London, England : 1878), 2014-10, Vol.137 (Pt 10), p.2670-2679

2014

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POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

eLife, 2020-09, Vol.9

2020

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Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele

Journal of human genetics, 2017-02, Vol.62 (2), p.159-166

2017

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Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Genetics in medicine, 2022-12, Vol.24 (12), p.2453-2463

2022

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Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy

Brain & development (Tokyo. 1979), 2013-02, Vol.35 (2), p.165-171

2013

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Successful Hemispherotomy in a Patient with Encephalopathy with Continuous Spikes and Waves during Sleep Related to Neonatal Thalamic Hemorrhage: A Case Report with Intracranial Electroencephalogram Findings

Brain sciences, 2021-07, Vol.11 (7), p.827

2021

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Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms

eNeuro, 2017-03, Vol.4 (2), p.ENEURO.0250-16.2017

2017

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Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele

Journal of human genetics, 2017-02, Vol.62 (2), p.159-166

2017

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Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma

Skeletal muscle, 2019-05, Vol.9 (1), p.11-11, Article 11

2019

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Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset

Pediatric neurology, 2014-11, Vol.51 (5), p.726-729

2014

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Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene

Pediatric neurology, 2013, Vol.48 (1), p.59-62

2013

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Anaphylactic transfusion reaction in homozygous haptoglobin deficiency detected by CD203c expression on basophils

Pediatric blood & cancer, 2014-07, Vol.61 (7), p.1160-1161

2014

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Augmented startle responses in opsoclonus-myoclonus syndrome

Brain & development (Tokyo. 1979), 2011-04, Vol.33 (4), p.335-338

2011

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Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)

Journal of neurology, neurosurgery and psychiatry, 2015-03, Vol.86 (3), p.280-287

2015

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Hepatitis C virus infection in inclusion body myositis: A case-control study

Neurology, 2016-01, Vol.86 (3), p.211-217

2016

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Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies

Journal of neuroimmunology, 2014-09, Vol.274 (1), p.202-208

2014

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Enhancing Learners’ Cross-Cultural Understanding in Language and Culture Class Using InCircle

Collaboration Technologies and Social Computing, 2017, Vol.10397, p.145-152

2017

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PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.845-849

2021

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Muscle Growth by Activin Type II Receptor Blocking Ameliorates Weakness in GNE Myopathy Mice

The FASEB journal, 2017-04, Vol.31 (S1)

2017

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Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Scientific reports, 2022-08, Vol.12 (1), p.14589-14589, Article 14589

2022

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Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2013-09, Vol.84 (9), p.982-988

2013

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Seamless Collaborative Learning Method to Learn Business Japanese with eBook and Chat System

Distributed, Ambient and Pervasive Interactions, 2019, Vol.11587, p.442-458

2019

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Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival

Science advances, 2022-05, Vol.8 (21), p.eabn0379

2022

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Three-Dimensional Echocardiographic Imaging of a Giant Eustachian Valve in an Infant With Reversed Cyanosis

Pediatric cardiology, 2010-10, Vol.31 (7), p.1114-1115

2010

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Causative variant profile of collagen VI-related dystrophy in Japan

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy

Successful Hemispherotomy in a Patient with Encephalopathy with Continuous Spikes and Waves during Sleep Related to Neonatal Thalamic Hemorrhage: A Case Report with Intracranial Electroencephalogram Findings

Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele

Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma

Extremely Severe Complicated Spastic Paraplegia 3A With Neonatal Onset

Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene

Anaphylactic transfusion reaction in homozygous haptoglobin deficiency detected by CD203c expression on basophils

Augmented startle responses in opsoclonus-myoclonus syndrome

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)

Hepatitis C virus infection in inclusion body myositis: A case-control study

Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies

Enhancing Learners’ Cross-Cultural Understanding in Language and Culture Class Using InCircle

PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy

Muscle Growth by Activin Type II Receptor Blocking Ameliorates Weakness in GNE Myopathy Mice

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

Seamless Collaborative Learning Method to Learn Business Japanese with eBook and Chat System

Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival

Three-Dimensional Echocardiographic Imaging of a Giant Eustachian Valve in an Infant With Reversed Cyanosis

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